Status and prospects of research in hereditary deafness

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Journal of medical genetics·2009

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Clinical genetics·2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Clinical genetics·2007

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Journal of medical genetics·2005

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Journal of medical genetics·2003

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Clinical genetics·2003

Genetic aspects of immunoglobulin A deficiency.

Advances in human genetics·1990

Structural defects in inherited and giant platelet disorders.

Advances in human genetics·1990

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026

Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort.

The British journal of dermatology·2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal of human genetics·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Endocrine, metabolic & immune disorders drug targets·2026

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

Molecular psychiatry·2026

Related Experiment Videos

Status and prospects of research in hereditary deafness

Related Concept Videos

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Genetic aspects of immunoglobulin A deficiency.

Structural defects in inherited and giant platelet disorders.

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

Related Experiment Videos

Status and prospects of research in hereditary deafness

Related Concept Videos

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